Neanderthal DNA admixture: SNPs, or more significant differences?

May 26, 2021 9:26 PM

When researchers talk about the overlap between Neanderthal DNA and the DNA of some modern humans, are they talking about whole sections of DNA which are completely different? Or are they talking about stretches of DNA which are identical to other humans with the exception of a SNP or three every couple of hundred base pairs?
posted by clawsoon to Science & Nature (3 answers total)

Here's some info. from the Smithsonian (several pages). There are various ways to contact them listed on the left hand side of their webpages. You might get in contact and ask your question to them.
posted by gudrun at 7:29 AM on May 27, 2021

The original paper by Green et al covers substitutions, insertions and deletions ("indels"), and gene copy-number variants in nuclear chromosomes. The first type of variant is also called a SNP and the paper discusses some Mendelian diseases associated with those and with indels. The latter type involves differences in the number of repeated and longer stretches of DNA, which can affect gene regulation and expression. One of the genes mentioned (DUX4) contained within these repeats has relationships to muscular dystrophy and cancer, when malfunctioning in humans. I only did a quick pass on this paper but did not see any mention of genes that are entirely novel to either species, nor in more recent papers from Vernot and Akey and Reich et al.
posted by They sucked his brains out! at 1:15 PM on May 27, 2021 [1 favorite]

The Green data appear to be short segments of Neandertal DNA aligned to older assemblies of human genome. The UCSC Genome Browser is a visualization tool and offers these data for further exploration online or locally. Ensembl is another organization that offers a similar sort of browser.
posted by They sucked his brains out! at 1:19 PM on May 27, 2021 [1 favorite]